Results 141 to 150 of about 5,660 (167)

Cerebral and cerebellar grey matter atrophy in Friedreich ataxia: the IMAGE-FRDA study

Journal of Neurology, 2016
Friedreich ataxia (FRDA) is traditionally associated with neuropathology in the cerebellar dentate nucleus and spinal cord. Growing evidence also suggests involvement of the cerebral and cerebellar cortices, although reports of structural abnormalities remain mixed. This study assessed the structural integrity of cortical grey matter in FRDA, focussing
Louisa P, Selvadurai, Ian H, Harding, Louise A, Corben, Monique R, Stagnitti, Elsdon, Storey, Gary F, Egan, Martin B, Delatycki, Nellie, Georgiou-Karistianis   +7 more
openaire   +2 more sources

G130V, a common FRDA point mutation, appears to have arisen from a common founder

Human Genetics, 1999
Friedreich ataxia (FRDA) is the most common inherited ataxia. About 98% of mutant alleles have an expansion of a GAA trinucleotide repeat in intron 1 of the affected gene, FRDA. The other 2% are point mutations. Of the 17 point mutations so far described, three appear to be more common. One of these is the G130V mutation in exon 4 of FRDA.
Martin Delatycki, M Koenig
exaly   +4 more sources

Isogenic perturb-seq to identify modulators of FRDA transcriptional phenotypes

2023
Most individuals with Friedreich’s ataxia (FRDA) have both neurologic and cardiac disease which impacts their quality of life. While neurologic symptoms generally are noted earlier in life, cardiac disease is unfortunately the most common cause of death.
openaire   +1 more source

Characterization of E. coli MG1655 and frdA and sdhC mutants at various aerobiosis levels

Journal of Biotechnology, 2011
Depending on the availability of oxygen, Escherichia coli is able to switch between aerobic respiratory metabolism and anaerobic mixed acid fermentation. An important, yet understudied, metabolic mode is the micro-aerobic metabolism at intermediate oxygen availabilities. The relationship between oxygen input, physiology and gene expression of E.
Steinsiek, S., Frixel, S., Stagge, S., Bettenbrock, K.   +3 more
openaire   +3 more sources

Reaching tasks in an altered dynamic environment: Motor adaptation in FRDA patients

Gait & Posture, 2014
Introduction: In the last few years, robotic devices are extensively employed to exploit how the Central Nervous System (CNS) learns to control movements in different dynamical conditions. It was demonstrate that normally developed subjects can adapt to novel dynamic environments, tuning an internal model of the armenvironment to compensate ...
M. Germanotta, M. Petrarca, S. Rossi, S. Carniel, E. Castelli, P. Cappa   +5 more
openaire   +1 more source

FRDA

2009
Robert J. Desnick, Orlando Guntinas-Lichius, George W. Padberg, Gustav Schonfeld, Xiaobo Lin, Maurizio Averna, Pin Yue, John-John B. Schnog, Victor E. A. Gerdes, Pedro R. Cutillas, Robert J. Unwin, Heike Schulze, Konrad Sandhoff, Jean-François Pellissier, Georges Serratrice, Dominique Figarella-Branger, Cord Sunderkötter, Marcelo Gustavo Binker, Laura Iris Cosen-Binker, Matthias Wettstein, Peter von den Driesch, Rima Nabbout, Massimo Mantegazza, Olivier Dulac, Johann Michael Schröder, Ho Sung Kang, Johann Michael Schröder, Marina Marchetti Hugo Ten Cate, Marina Marchetti, Hugo ten Cate, Lev I. Patrushev, Lee S. Weinstein, Adiba Isa, Fernando Azpiroz, Guang-Sheng Li, Ling Jing, Hui Xu, Anne M. Molloy, John M. Scott, Cord Sunderkötter, Axel Lorentz, Stephan C. Bischoff, Filippo Tamanini, Filippo Tamanini, Thomas Klockgether, Derek A. Wong, Jürgen Kopitz, Carolina von Reitzenstein, Michael Cantz   +48 more
openaire   +1 more source

Concomitancy of mutation in FRDA gene and FMR1 premutation in 58 year-old woman.

Neuro endocrinology letters, 2005
DNA testing broadens diagnostic tools available for hereditary ataxias. However, together with current knowledge of genes and their mutations crop up new phenotype figures of diseases already well known. Diagnostic problems in practice can consist in part due to the very similar symptoms of hereditary ataxias and acquaintance in or availability of new ...
Alena, Zumrová, Radim, Mazanec, Martin, Vyhnálek, Anna, Krepelová, Zuzana, Musová, Stefanie, Krilová, Ludmila, Appltová, Markéta, Havlovicová   +7 more
openaire   +1 more source

The effect of parental gender on the GAA dynamic mutation in the FRDA gene [2]

1997
No abstract ...
Pianese L, Cavalcanti F, De Michele G, Filla A, Campanella G, Calabrese O, Castaldo I, Monticelli A, Cocozza S   +8 more
openaire   +1 more source

A comprehensive proteomics analysis of Friedreich's ataxia (FRDA)

Ministry of National Education ...
openaire   +1 more source

Monitoring progression in Friedreich ataxia (FRDA): the use of clinical scales

Journal of Neurochemistry, 2013
Jörg B. Schulz, Katrin Burk
exaly